Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency Journal Article
| Authors: | Speisere, P. W.; New, M. I.; Tannin, G. M.; Pickering, D.; Yang, S. Y.; White, P. C. |
| Article Title: | Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
| Abstract: | An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the disease in this highly inbred population. © 1992 Springer-Verlag. |
| Keywords: | mutation; case report; molecular genetics; gene locus; genotype; gene frequency; haplotype; base pairing; hla antigens; rna splicing; hla system; hybridization; prenatal diagnosis; oligonucleotide probes; human; male; female; priority journal; article; support, u.s. gov't, p.h.s.; congenital adrenal hyperplasia; steroid 21 monooxygenase deficiency; adrenal hyperplasia, congenital; eskimos |
| Journal Title: | Human Genetics |
| Volume: | 88 |
| Issue: | 6 |
| ISSN: | 0340-6717 |
| Publisher: | Springer |
| Date Published: | 1992-03-01 |
| Start Page: | 647 |
| End Page: | 648 |
| Language: | English |
| DOI: | 10.1007/bf02265290 |
| PUBMED: | 1551668 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 30 July 2019 -- Source: Scopus |
